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rs797044853

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GTGTT;GTGTT) 0 common in clinvar
Make rs797044853(-;-)
Make rs797044853(-;GTGTT)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position21406928
GeneCHD8
is asnp
is mentioned by
dbSNPrs797044853
dbSNP (classic)rs797044853
ClinGenrs797044853
ebirs797044853
HLIrs797044853
Exacrs797044853
Gnomadrs797044853
Varsomers797044853
LitVarrs797044853
Maprs797044853
PheGenIrs797044853
Biobankrs797044853
1000 genomesrs797044853
hgdprs797044853
ensemblrs797044853
geneviewrs797044853
scholarrs797044853
googlers797044853
pharmgkbrs797044853
gwascentralrs797044853
openSNPrs797044853
23andMers797044853
SNPshotrs797044853
SNPdbers797044853
MSV3drs797044853
GWAS Ctlgrs797044853
Max Magnitude0
ClinVar
Risk rs797044853(-;-)
Alt rs797044853(-;-)
Reference Rs797044853(GTGTT;GTGTT)
Significance Pathogenic
Disease Inborn genetic diseases
Variation info
Gene CHD8
CLNDBN Inborn genetic diseases
Reversed 1
HGVS NC_000014.8:g.21875087_21875091delAACAC
CLNSRC
CLNACC RCV000190654.1,